Mixed hepatic porphyria is a type of acute hepatic porphyria and an uncommon hereditary metabolic disease. It is developed when the Protoporphyrinogen Oxidase or PPOX gene fails to function properly, resulting in a buildup of specific compounds known as porphyrins precursors in the body. Moreover, porphyrins are chemicals that help make hemoglobin, a protein found in red blood cells that helps carry oxygen from the lungs to the rest of the body.
Furthermore, mixed hepatic porphyria is transmitted in an autosomal recessive manner, which means that one copy of the defective gene seen in the autosome, which a child inherits from an afflicted parent, is enough to produce the disease. More severe instances arise from inheriting multiple variants of the defective gene.
This type of porphyria affects one in every 100,000 individuals, mostly in European countries, namely, South Africa, Australia, Sweden, and Argentina. It appears after adolescence and affects women more than males. Also, an individual may carry a genetic mutation for an inherited disease while displaying neither indications nor symptoms of the illness.
